Congenital hereditary endothelial dystrophy

Congenital Hereditary Endothelial Dystrophy (CHED) is a rare genetic disorder that primarily affects the cornea. It is characterized by a cloudy cornea present at birth or shortly thereafter, and can lead to significant visual impairment.

Symptoms

The primary symptom of CHED is a cloudy cornea, which can lead to blurred vision or even blindness. Other symptoms may include nystagmus (involuntary eye movement), photophobia (sensitivity to light), and epiphora (excessive tearing).

Causes

CHED is caused by mutations in the SLC4A11 gene. This gene provides instructions for making a protein that is found in the cornea, where it plays a role in maintaining the cornea's transparency and thickness. Mutations in the SLC4A11 gene disrupt the function of this protein, leading to the corneal abnormalities seen in CHED.

Diagnosis

Diagnosis of CHED is based on the clinical features, including the characteristic cloudy cornea. Genetic testing can confirm the diagnosis by identifying a mutation in the SLC4A11 gene.

Treatment

Treatment for CHED is primarily surgical, with corneal transplantation being the most common procedure. This can significantly improve vision in individuals with CHED.

See also

• Cornea
• Genetic disorder
• Mutation
• SLC4A11 gene
• Corneal transplantation

References

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